与β-原肌球蛋白突变相关的远端关节挛缩症和肌肉无力。

Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation.

作者信息

Tajsharghi H, Kimber E, Holmgren D, Tulinius M, Oldfors A

机构信息

Department of Pathology, Sahlgrenska University Hospital, SE-413 45 Göteborg, Sweden.

出版信息

Neurology. 2007 Mar 6;68(10):772-5. doi: 10.1212/01.wnl.0000256339.40667.fb.

DOI:10.1212/01.wnl.0000256339.40667.fb

PMID:17339586

Abstract

Tropomyosin (TM), a sarcomeric thin-filament protein, plays an essential part in muscle contraction by regulating actin-myosin interaction. We describe two patients, a woman and her daughter, with muscle weakness and distal arthrogryposis (DA) type 2B, caused by a heterozygous missense mutation, R133W, in TPM2, the gene encoding beta-TM. Our results demonstrate the involvement of muscle dysfunction in the pathogenesis of DA and the fact that DA2B may be caused by mutations in TPM2.

摘要

原肌球蛋白（TM）是一种肌节细肌丝蛋白，通过调节肌动蛋白-肌球蛋白相互作用在肌肉收缩中起重要作用。我们描述了两名患者，一名女性及其女儿，她们患有2B型肌肉无力和远端关节挛缩症（DA），这是由编码β-TM的基因TPM2中的杂合错义突变R133W引起的。我们的结果证明了肌肉功能障碍在DA发病机制中的作用，以及DA2B可能由TPM2突变引起这一事实。